| 王 涛,华益民,周开宇,杨 佳,李 红.婴儿期Klippel-Trenaunay综合征并精神运动发育迟缓病例报道及文献复习[J].现代生物医学进展英文版,2017,17(17):3367-3369. |
| 婴儿期Klippel-Trenaunay综合征并精神运动发育迟缓病例报道及文献复习 |
| Klippel-Trenaunay Syndrome Combined with Psychomotor Retardation in Infancy: a Case Report |
| Received:September 13, 2016 Revised:September 30, 2016 |
| DOI：10.13241/j.cnki.pmb.2017.17.042 |
| 中文关键词: Klippel-Trenaunay综合征 血管瘤 精神运动发育迟缓 婴儿 |
| 英文关键词: Klippel-Trenaunay syndrome Hemangioma Psychomotor retardation Infant |
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| 中文摘要: |
| 摘要：Klippel-Trenaunay综合征(KTS)又称先天性静脉畸形骨肥大综合征，好发于儿童及青少年。临床以多发性皮肤血管瘤、肢体静脉曲张、骨及软组织肥大为特征。其病因尚不清楚，可能为遗传性血管壁间质组织发育异常所致。目前尚无特异的治疗方法，手术及介入治疗主要是减轻症状和治疗并发症。对于婴儿期出现偏侧肢体肥大并血管瘤的患儿应长期随访，早期诊断，早期干预以防止并发症。近年来有报道利用超声进行产前诊断，对及时发现和处理有重要意义。本文报道1例婴儿期KTS，以口腔黏膜血管瘤伴出血、颜面及肢体不对称性肥大为特点，并伴精神运动发育迟缓，CT见侧脑室、三脑室扩张。 |
| 英文摘要: |
| ABSTRACT: Klippel-Trenaunay syndrome (KTS) was a rare congenital syndrome characterized by capillary malformations, soft tissues and bone hypertrophy, and varicose veins, mostly involved in one side of the body. Vascular malformations could be involved in multiple organs. The cause of the syndrome was unknown,which might be dysplasia for congenital vascular wall interstitial tissue. There was not specific treatment, surgical and interventional treatment were mainly to alleviate the symptoms. KTS infants with limb heman- giomas or asymmetric hypertrophy should be a long-term follow-up for early intervention. Ultrasound played an important role in prena- tal diagnosis. We presented one KTS infant in early stage, who was characterized with oral mucosa hemangiomas, asymmetric hypertro- phy of limbs, as well as psychomotor retardation.Cranial CT indicated that the lateral ventricle and the three ventricle were enlarged. |
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